ESPE Abstracts

Poor adherence to long-term growth hormone (GH) treatment can lead to suboptimal clinical outcomes. The easypod™ connect eHealth platform enables healthcare professionals to obtain an accurate picture of real-world adherence by allowing patients to transmit adherence data to a database. Our aims were to assess adherence to r-hGH (Saizen, Merck KGaA, Darmstadt, Germany) treatment with the easypod connect platform in children from treatment start to 48 months and to investi...

Introduction: Growth hormone deficiency (GHD) is the most frequent endocrine deficit in childhood survivors of brain tumours. However, there is insufficient evidence to guide the timing of growth hormone replacement (GHR). At Great Ormond Street Hospital timing is based on clinical need rather than in relation to oncological treatment. Therefore, sufficient variability in GHR timing is available to analyze its effect on tumour progression and recurrence.<p...

Introduction: Growth hormone excess (GHE) in children with neurofibromatosis type 1 (NF-1) has been reported in some sporadic cases. Whether GHE stimulates progressive optic pathway glioma (OPG) growth is of concern. The prevalence of GHE in NF-1 has not been described and the scheme treatment has not been well characterized.Objective: To describe in children with NF-1/OPG and GH excess the treatment regimen and long term response to long- acting octeotr...

Background: Obesity during childhood has been demonstrated to exert profound and lasting effects on bone strength and fracture risk. Furthermore, obesity is characterized by chronic inflammation and oxidative stress, with an increase in the mediators of innate immunity. It has been found that skeletal homeostasis is influenced by immune cells. LIGHT (lymphotoxin-like inducible protein that competes with glycoprotein D for herpesvirus entry on T cells) is emerging among cytokin...

Introduction: Tuberous sclerosis complex (TSC) is an autosomal dominant condition caused by a loss-of-function mutation in tumor suppressor genes TSC1/TSC2 which are involved in the inhibition of mTOR signaling implicated in cell proliferation. Major clinical features includes cardiac rhabdomyomas, renal cysts, epilepsy associated to cerebral dysplasia evidenced by cortical tubers and skin manifestation as: angiofibromas, fibrous plaques and the Shagreen patch...

Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. The aim of this study was to characterize the histology of 46,XX DSD prepubertal gonads. We studied 25 gonads of fourteen 46,XX DSD patients. The age of biopsy/gonadectomy was 1.17 (0.08–4.17) years (median and range). Molecular studies confirmed the absence of SRY by PCR and/or MLPA in blood samples of all patients and i...

The easypod™ electromechanical injection in combination with the easypod Connect platform electronically records and transmits, in real time, accurate, objective records of the date, time and dose injected for patients receiving Growth Hormone (GH) for growth disorders, limiting the risk of misreporting and allowing physicians to accurately monitor patient behavior.The aim was to study individual patterns of adherence from start treatment up to 24 m...

Previous studies have shown that poor adherence to recombinant human growth hormone (r-hGH; Saizen®) therapy is associated with decreased efficacy outcomes and increased healthcare costs. Easypod™ is the only electronic injection device that enables continuous monitoring of adherence to treatment. Early recognition of non-adherence is essential in the management of long-term outcomes of r-hGH therapy. This analysis aimed to evaluate adherence to r-hGH therapy adminis...

Background: Small for gestational age (SGA) children who experience rapid and exaggerated postnatal catch-up are prone to develop insulin resistance and to progress faster into puberty, resulting in a shorter final height. Short, non-catch-up SGA children treated with recombinant human GH (rhGH) may present with the same sequence. In a previous controlled study from our group performed in short SGA children, metformin – added to rhGH therapy – improved endocrine-meta...

Background: GH deficiency (GHD) occurs due to different aetiologies, morphological abnormalities in pituitary, or mutations leading the individual to lose the genetic growth potential. The pituitary dysfunction can be as GHD alone or associated with other hormones deficiencies. Patients with abnormalities in pituitary may present a greater height loss than others and couldn’t reach the target height (TH) according to final height (FH).Objectives: To...